RHDA1
MCID: RNL100
MIFTS: 53

Renal Hypodysplasia/aplasia 1 (RHDA1) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Renal Hypodysplasia/aplasia 1

Aliases & Descriptions for Renal Hypodysplasia/aplasia 1:

Name: Renal Hypodysplasia/aplasia 1 54 24 66
Renal Agenesis 54 12 50 24 56 66 29 52 14
Renal Adysplasia 12 24 66 29 13 69
Renal Aplasia 12 24 66
Rhda1 24 66
Congenital Absence of Kidneys Syndrome 69
Urogenital Adysplasia, Hereditary 24
Hereditary Urogenital Adysplasia 12
Renal Agenesis, Bilateral 56
Hereditary Renal Aplasia 12
Bilateral Renal Agenesis 24
Bra 24

Characteristics:

Orphanet epidemiological data:

56
renal agenesis, bilateral
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Italy),1-9/100000 (Netherlands),1-5/10000 (Ireland),1-9/100000 (Norway),1-9/100000 (Poland),1-9/1000000 (Spain),1-9/100000 (Hungary),1-5/10000 (Denmark),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Malta),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Neonatal; Age of death: infantile;
renal agenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

32
renal hypodysplasia/aplasia 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 191830
Disease Ontology 12 DOID:14766
MESH via Orphanet 43 C536482
ICD10 via Orphanet 34 Q60.1 Q60.2 Q60.0
ICD10 33 Q60.1

Summaries for Renal Hypodysplasia/aplasia 1

OMIM : 54 Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia,... (191830) more...

MalaCards based summary : Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to renal agenesis, unilateral and aniridia renal agenesis psychomotor retardation, and has symptoms including hypertelorism, low-set ears and cleft palate. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8). The drugs Darbepoetin alfa and Epoetin alfa have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and uterus, and related phenotypes are cardiovascular system and mortality/aging

UniProtKB/Swiss-Prot : 66 Renal hypodysplasia/aplasia 1: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.

Related Diseases for Renal Hypodysplasia/aplasia 1

Diseases in the Renal Hypodysplasia/aplasia 1 family:

Renal Hypodysplasia/aplasia 2

Diseases related to Renal Hypodysplasia/aplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
id Related Disease Score Top Affiliating Genes
1 renal agenesis, unilateral 12.0
2 aniridia renal agenesis psychomotor retardation 11.9
3 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.8
4 hirschsprung disease with polydactyly, renal agenesis, and deafness 11.8
5 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 11.8
6 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 11.8
7 bilateral renal agenesis dominant type 11.8
8 double uterus-hemivagina-renal agenesis 11.8
9 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.8
10 renal agenesis meningomyelocele mullerian defect 11.8
11 potter's syndrome 11.4
12 bifid nose with or without anorectal and renal anomalies 11.4
13 fraser syndrome 11.2
14 kallmann syndrome 11.1
15 urogenital adysplasia 11.1
16 renal hypodysplasia/aplasia 2 11.0
17 pelviureteric junction obstruction 10.9
18 congenital anomalies of kidney and urinary tract 10.9
19 mayer-rokitansky-kuster-hauser syndrome 10.9
20 billet bear syndrome 10.8
21 ellis yale winter syndrome 10.8
22 upk3a-related renal adysplasia 10.8
23 holzgreve syndrome 10.8
24 murcs association 10.8
25 santos mateus leal syndrome 10.8
26 kidney disease 10.7
27 renal hypoplasia 10.6
28 meigel disease 10.3 GDNF RET
29 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.2 GDNF RET
30 ariboflavinosis 10.2 CFTR GDNF RET
31 aica-ribosiduria due to atic deficiency 10.2 FRAS1 FREM2 GRIP1
32 temple syndrome 10.1 FRAS1 HOXA2 SALL1
33 corticosterone methyloxidase deficiency 10.1 EYA1 SIX1
34 mitochondrial dna depletion syndrome 4b 10.1 FRAS1 FREM2
35 renal hypoplasia, unilateral 10.1
36 renal hypoplasia, bilateral 10.1
37 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis 10.1 FRAS1 FREM1 FREM2 RET
38 vaginitis 10.1
39 cutaneous-skeletal hypophosphatemia syndrome 10.1 FRAS1 FREM1 FREM2 GRIP1
40 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.1 EYA1 SIX1
41 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation 10.1 FMN1 PAX2
42 clcn7-related osteopetrosis 10.0 EYA1 SIX1 SIX5
43 amenorrhea 10.0 EYA1 SIX1 SIX5
44 warburg micro syndrome 10.0 EYA1 SIX1 SIX5
45 oligomeganephronic renal hypoplasia 10.0
46 papillorenal syndrome 10.0
47 rhizomelic chondrodysplasia punctata spectrum 10.0 EYA1 ITGA8 PAX2 SALL1 SIX1
48 parkinson disease 4 10.0 FRAS1 FREM1 FREM2 FREM3 GRIP1 ITGA8
49 cervicitis 10.0
50 retinitis pigmentosa 63 9.9 EYA1 PAX2 SIX1 SIX5

Graphical network of the top 20 diseases related to Renal Hypodysplasia/aplasia 1:



Diseases related to Renal Hypodysplasia/aplasia 1

Symptoms & Phenotypes for Renal Hypodysplasia/aplasia 1

Symptoms by clinical synopsis from OMIM:

191830

Clinical features from OMIM:

191830

Human phenotypes related to Renal Hypodysplasia/aplasia 1:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 low-set ears 56 32 Very frequent (99-80%) HP:0000369
3 cleft palate 56 32 Occasional (29-5%) HP:0000175
4 epicanthus 56 32 Very frequent (99-80%) HP:0000286
5 non-midline cleft lip 56 32 Occasional (29-5%) HP:0100335
6 depressed nasal ridge 56 32 Very frequent (99-80%) HP:0000457
7 urogenital fistula 56 32 Frequent (79-30%) HP:0100589
8 tracheoesophageal fistula 56 32 Frequent (79-30%) HP:0002575
9 oligohydramnios 56 32 Very frequent (99-80%) HP:0001562
10 abnormality of the sacrum 56 32 Frequent (79-30%) HP:0005107
11 abnormality of female internal genitalia 56 32 Occasional (29-5%) HP:0000008
12 renal agenesis 56 32 Very frequent (99-80%) HP:0000104
13 pulmonary hypoplasia 56 32 Very frequent (99-80%) HP:0002089
14 sirenomelia 56 32 Occasional (29-5%) HP:0010497
15 abnormality of the intestine 56 32 Frequent (79-30%) HP:0002242
16 fetal polyuria 56 32 Frequent (79-30%) HP:0001563
17 nonketotic hypoglycemia 56 32 Very frequent (99-80%) HP:0001958
18 hypertension 32 HP:0000822
19 proteinuria 32 HP:0000093
20 malformation of the heart and great vessels 56 Frequent (79-30%)
21 retrognathia 32 HP:0000278
22 primary amenorrhea 32 HP:0000786
23 abnormality of the foot 32 HP:0001760
24 talipes equinovarus 32 HP:0001762
25 abnormality of cardiovascular system morphology 32 HP:0030680
26 bicornuate uterus 32 HP:0000813
27 renal dysplasia 32 HP:0000110
28 vaginal atresia 32 HP:0000148
29 potter facies 32 HP:0002009

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 EYA1 FRAS1 FREM2 GDNF GRIP1 HOXA2
2 mortality/aging MP:0010768 10.31 SIX1 SIX2 CFTR EYA1 FMN1 FRAS1
3 cellular MP:0005384 10.3 EYA1 FMN1 FRAS1 GDNF HOXA2 ITGA8
4 growth/size/body region MP:0005378 10.24 FRAS1 FREM1 FREM2 GDNF GRIP1 HOXA2
5 digestive/alimentary MP:0005381 10.19 CFTR EYA1 FRAS1 FREM1 GDNF HOXA2
6 nervous system MP:0003631 10.15 PAX2 RET SALL1 SIX1 EYA1 FGF20
7 embryo MP:0005380 10.13 EYA1 FREM2 GRIP1 HOXA2 PAX2 RET
8 endocrine/exocrine gland MP:0005379 10.11 CFTR EYA1 FREM1 GDNF PAX2 RET
9 craniofacial MP:0005382 10.09 CFTR EYA1 FRAS1 FREM1 FREM2 HOXA2
10 hearing/vestibular/ear MP:0005377 10.08 EYA1 FGF20 FREM2 HOXA2 ITGA8 PAX2
11 renal/urinary system MP:0005367 10.07 GDNF GRIP1 ITGA8 PAX2 RET SALL1
12 limbs/digits/tail MP:0005371 10.06 FMN1 FRAS1 FREM1 FREM2 GRIP1 RET
13 muscle MP:0005369 10.01 EYA1 FREM1 FREM2 GDNF HOXA2 RET
14 normal MP:0002873 9.92 CFTR EYA1 FMN1 FREM1 HOXA2 RET
15 reproductive system MP:0005389 9.81 CFTR EYA1 FMN1 FREM1 FREM2 GDNF
16 respiratory system MP:0005388 9.61 CFTR EYA1 FRAS1 FREM1 FREM2 HOXA2
17 vision/eye MP:0005391 9.28 CFTR EYA1 FRAS1 FREM1 FREM2 GRIP1

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 1

Drugs for Renal Hypodysplasia/aplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Darbepoetin alfa Approved, Investigational Phase 4,Phase 2 11096-26-7, 209810-58-2
2 Epoetin alfa Phase 4,Phase 3,Phase 2 113427-24-0
3 Hematinics Phase 4,Phase 3,Phase 2
4 Immunoglobulins Phase 4,Phase 3,Phase 2
5 Antibodies Phase 4,Phase 3,Phase 2
6
Iron Approved Phase 3,Phase 2 7439-89-6 23925
7
Cyclosporine Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
8
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
9
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599, 9887054 43805
10
Benzocaine Approved Phase 3,Phase 2 1994-09-7, 94-09-7 2337
11
Fluorouracil Approved Phase 3 51-21-8 3385
12
Levoleucovorin Approved Phase 3 68538-85-2
13
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
14
Mycophenolic acid Approved Phase 3,Phase 1,Phase 2 24280-93-1 446541
15
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 1,Phase 2 128794-94-5 5281078
16
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
17
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
18
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
19 tannic acid Approved, Nutraceutical Phase 3,Phase 2
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
21 Alkylating Agents Phase 3,Phase 1,Phase 2
22 Dermatologic Agents Phase 3,Phase 2,Phase 1
23 Trace Elements Phase 3
24 Hormone Antagonists Phase 3,Phase 1
25 Hormones Phase 3,Phase 1
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
27 Vitamin B Complex Phase 3
28 Vitamins Phase 3
29 Anti-Infective Agents Phase 3,Phase 2,Phase 1
30 Ferric Compounds Phase 3
31 Ferric oxide, saccharated Phase 3
32 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
33 Protective Agents Phase 3
34 Antidotes Phase 3
35 Antifungal Agents Phase 3,Phase 2,Phase 1
36 Antimetabolites Phase 3,Phase 1,Phase 2
37 Antimetabolites, Antineoplastic Phase 3,Phase 1,Phase 2
38 Micronutrients Phase 3
39 Antirheumatic Agents Phase 3,Phase 2,Phase 1
40 Antineoplastic Agents, Alkylating Phase 3,Phase 1,Phase 2
41 Bone Density Conservation Agents Phase 3
42 Calcineurin Inhibitors Phase 3,Phase 2,Phase 1
43 Calcium, Dietary Phase 3
44 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2
45 Antibiotics, Antitubercular Phase 3,Phase 1,Phase 2
46 Prednisolone acetate Phase 3
47 glucocorticoids Phase 3
48 Gastrointestinal Agents Phase 3
49 Neuroprotective Agents Phase 3
50 Peripheral Nervous System Agents Phase 3

Interventional clinical trials:

(show all 39)
id Name Status NCT ID Phase
1 Surveillance Study to Estimate the Incidence of Pure Red Blood Cell Aplasia Among Patients With Chronic Kidney Failure Completed NCT00391287 Phase 4
2 Study to Monitor the Incidence of Pure Red Cell Aplasia (PRCA) and/or Antibodies to Erythropoietin Among Participants Receiving Epoetin Alfa or Another Erythropoietin Completed NCT00210951 Phase 4
3 A Study of Risk Factors for Anti-erythropoietin Antibody Positive Pure Red Cell Aplasia Among Patients With Chronic Kidney Disease Receiving Epoetin Alfa Completed NCT00211068 Phase 4
4 A Study to Observe the Number of Patients Who Develop Pure Red Cell Aplasia (PRCA, a Rare Form of Anemia) While Receiving Epoetin Alfa or Other Recombinant Erythropoietins Completed NCT00211029 Phase 4
5 A Study to Assess All-Cause Mortality and Cardiovascular Morbidity in Participants With Chronic Kidney Disease (CKD) on Dialysis and Those Not on Renal Replacement Therapy Receiving Methoxy Polyethylene Glycol-Epoetin Beta (Mircera) or Reference Erythropo Active, not recruiting NCT00773513 Phase 4
6 Pure Red Cell Aplasia in Patients With Chronic Kidney Disease and in Use of Epoetin Alfa Enrolling by invitation NCT02648126 Phase 4
7 Cohort Study to Determine the Long-Term Safety and Efficacy of Biogeneric Epoetin Treatment for Renal Anemia Unknown status NCT00238043 Phase 3
8 Iron Sucrose in Stage 3/4 Kidney Disease Completed NCT00202345 Phase 3
9 Efficacy and Safety Study of GerEPO Completed NCT00229099 Phase 3
10 Systemic Chemotherapy With or Without Intraperitoneal Chemohyperthermia in Treating Patients Undergoing Surgery for Peritoneal Carcinomatosis From Colorectal Cancer Completed NCT00769405 Phase 3
11 Study of Anti-r-HuEpo Associated Pure Red Cell Aplasia (PRCA) Treatment Terminated NCT01288131 Phase 3
12 Efficacy and Safety of Peginesatide in the Treatment of Anemia in Patients With Chronic Kidney Disease Completed NCT00314795 Phase 2
13 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2
14 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2
15 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2
16 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2
17 Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed By Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Stage IV Kidney Cancer Active, not recruiting NCT00005851 Phase 1, Phase 2
18 Fludarabine Phosphate, Low-Dose Total-Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine, Mycophenolate Mofetil, Donor Lymphocyte Infusion in Treating Patients With Hematopoietic Cancer Active, not recruiting NCT00006251 Phase 1, Phase 2
19 A Study of the Efficacy and Safety of MK2578 for the Treatment of Anemia in Patients With Kidney Disease (MK2578-003-AM03-EXT12) Terminated NCT00924781 Phase 2
20 A Study of MK2578 in Patients With Chronic Kidney Disease Who Are Not on Dialysis (2578-002) Terminated NCT00968617 Phase 2
21 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2
22 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1
23 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
24 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
25 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
26 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
27 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
28 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
29 Renal Agenesis Fetal Therapy Recruiting NCT03101891
30 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
31 Post-Authorisation Safety Cohort Observation of RetacritTM (Epoetin Zeta) Administered Subcutaneously for the Treatment of Renal Anaemia Recruiting NCT01543477
32 AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome) Recruiting NCT02250456
33 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
34 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
35 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
36 Genes Influencing Iron Overload State Active, not recruiting NCT01158794
37 Fludarabine Phosphate, Low-Dose Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies or Kidney Cancer Active, not recruiting NCT00005799
38 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851
39 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628

Search NIH Clinical Center for Renal Hypodysplasia/aplasia 1

Genetic Tests for Renal Hypodysplasia/aplasia 1

Genetic tests related to Renal Hypodysplasia/aplasia 1:

id Genetic test Affiliating Genes
1 Renal Adysplasia 29
2 Renal Agenesis 29 24 RET
3 Renal Hypodysplasia/aplasia 1 24 ITGA8
4 Urogenital Adysplasia, Hereditary 24

Anatomical Context for Renal Hypodysplasia/aplasia 1

MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 1:

39
Kidney, Heart, Uterus

Publications for Renal Hypodysplasia/aplasia 1

Variations for Renal Hypodysplasia/aplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 1:

66
id Symbol AA change Variation ID SNP ID
1 ITGA8 p.Gly407Arg VAR_071107 rs374664941

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.*1969T> C single nucleotide variant protective rs3026785 GRCh37 Chromosome 10, 43625686: 43625686
2 ITGA8 NM_003638.2(ITGA8): c.2982+2T> C single nucleotide variant Pathogenic rs587777279 GRCh37 Chromosome 10, 15573047: 15573047
3 ITGA8 NM_003638.2(ITGA8): c.1622_1626delAGGTG (p.Glu541Alafs) deletion Pathogenic rs587777280 GRCh37 Chromosome 10, 15649814: 15649818
4 ITGA8 NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg) single nucleotide variant Pathogenic rs374664941 GRCh37 Chromosome 10, 15686209: 15686209

Expression for Renal Hypodysplasia/aplasia 1

Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 1.

Pathways for Renal Hypodysplasia/aplasia 1

GO Terms for Renal Hypodysplasia/aplasia 1

Cellular components related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.92 FRAS1 FREM1 FREM2 FREM3

Biological processes related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.85 ITGA8 SALL1 SIX1 SIX2
2 cellular response to retinoic acid GO:0071300 9.81 HOXA2 PAX2 RET
3 pattern specification process GO:0007389 9.79 EYA1 HOXA2 SIX1
4 inner ear morphogenesis GO:0042472 9.78 EYA1 ITGA8 PAX2 SIX1
5 embryonic skeletal system morphogenesis GO:0048704 9.73 EYA1 HOXA2 SIX1 SIX2
6 regulation of neuron differentiation GO:0045664 9.71 EYA1 FGF20 SIX1
7 cell communication GO:0007154 9.71 FRAS1 FREM1 FREM2 FREM3
8 cochlea morphogenesis GO:0090103 9.7 EYA1 PAX2 SIX1
9 cell fate determination GO:0001709 9.67 HOXA2 PAX2
10 pharyngeal system development GO:0060037 9.67 EYA1 SIX1
11 morphogenesis of an epithelium GO:0002009 9.67 FRAS1 FREM2
12 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.67 GDNF PAX2 SIX1
13 metanephros development GO:0001656 9.67 EYA1 GDNF ITGA8 SIX2
14 neuron fate specification GO:0048665 9.66 EYA1 SIX1
15 anatomical structure development GO:0048856 9.66 EYA1 SIX1
16 aorta morphogenesis GO:0035909 9.65 EYA1 SIX1
17 enteric nervous system development GO:0048484 9.65 GDNF RET
18 organ induction GO:0001759 9.65 GDNF SIX1
19 animal organ development GO:0048513 9.64 PAX2 SIX1
20 outer ear morphogenesis GO:0042473 9.63 EYA1 SALL1
21 metanephric mesenchyme development GO:0072075 9.63 PAX2 SIX1
22 otic vesicle development GO:0071599 9.62 EYA1 SIX1
23 positive regulation of ureteric bud formation GO:0072107 9.6 GDNF SIX1
24 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.59 GDNF PAX2
25 ureter maturation GO:0035799 9.58 PAX2 RET
26 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.58 EYA1 SIX1
27 positive regulation of metanephric glomerulus development GO:0072300 9.57 PAX2 RET
28 ureteric bud invasion GO:0072092 9.56 FMN1 SALL1
29 middle ear morphogenesis GO:0042474 9.56 EYA1 HOXA2 SIX1 SIX2
30 ureteric bud development GO:0001657 9.55 EYA1 GDNF RET SALL1 SIX1
31 mesodermal cell fate specification GO:0007501 9.5 EYA1 PAX2 SIX2
32 branching involved in ureteric bud morphogenesis GO:0001658 9.35 EYA1 GDNF PAX2 SALL1 SIX1
33 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 8.92 GDNF PAX2 SALL1 SIX2
34 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.11 EYA1 GDNF HOXA2 PAX2 SALL1 SIX1
35 multicellular organism development GO:0007275 10.11 EYA1 FREM1 FREM2 HOXA2 ITGA8 PAX2
36 cell adhesion GO:0007155 10.09 ANOS1 FREM1 FREM2 FREM3 ITGA8 RET
37 positive regulation of transcription, DNA-templated GO:0045893 10.08 EYA1 GRIP1 PAX2 RET SALL1 SIX1

Molecular functions related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.35 HOXA2 SALL1 SIX1 SIX2 SIX5
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 FGF20 GDNF RET
3 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.02 HOXA2 SALL1 SIX1 SIX2 SIX5

Sources for Renal Hypodysplasia/aplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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